COX8A p.Arg23=
c.69C>A · VCV3664902
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0588%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.54 | GERP -1.8, phastCons 0.047 |
| Overall | ||
| CADD | 7.631 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0588%
African / African-American · 44/74,844 alleles
Filtering AF
0.0449%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0401%
Overall
0.00317%
51/1,607,950 alleles · ultra-rare
exomes 23/1,455,734 · genomes 28/152,216 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0588% | 1,701 |
| Admixed American | 0.00847% | 11,809 |
| Remaining individualsnot grpmax-eligible | 0.00322% | 31,056 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- COX8A
- Protein
- p.Arg23=
- Coding
- c.69C>A
- MANE Select
- NM_004074
- Type
- single nucleotide variant
- Location
- chr11:63974749 (GRCh38)
- Gene constraint
- LOEUF 1.922 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.74 · 4 PDB
Similar variants
- COX8A p.Arg23Cys Benign/Likely benign ★★ same residue
- COX8A p.Trp57Cys Uncertain significance ★★ ⚠ same type
- COX8A c.114+17G>A Likely benign ★★ same type
- COX8A p.Ile37= Benign/Likely benign ★★ same type
- COX8A p.Ile58= Benign/Likely benign ★★ same type
- COX8A p.Leu8= Benign ★★ same type
- COX8A p.Pro31= Likely benign ★★ same type
- COX8A p.Glu39Gly Uncertain significance ★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cox8a-p-arg23 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown